Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2

Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, and brain anomalies, and identified a rare heterozy...

Descripción completa

Detalles Bibliográficos
Autores principales: Christians, Anne, Kesdiren, Esra, Hennies, Imke, Hofmann, Alejandro, Trowe, Mark-Oliver, Brand, Frank, Martens, Helge, Gjerstad, Ann Christin, Gucev, Zoran, Zirngibl, Matthias, Geffers, Robert, Seeman, Tomáš, Billing, Heiko, Bjerre, Anna, Tasic, Velibor, Kispert, Andreas, Ure, Benno, Haffner, Dieter, Dingemann, Jens, Weber, Ruthild G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9839807/
https://www.ncbi.nlm.nih.gov/pubmed/36066768
http://dx.doi.org/10.1007/s00439-022-02481-6

Ejemplares similares

Ejemplares similares